Found: 71
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Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene.
- Published in:
- 2020
- By:
- Publication type:
- case study
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9517114
- By:
- Publication type:
- Article
Development and clinical validation of a circulating tumor DNA test for the identification of clinically actionable mutations in nonsmall cell lung cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 4, p. 211, doi. 10.1002/gcc.22522
- By:
- Publication type:
- Article
Genome-Wide Analysis of DNA Methylation and Gene Expression Changes in Two Arabidopsis Ecotypes and Their Reciprocal Hybrids.
- Published in:
- Plant Cell, 2012, v. 24, n. 3, p. 875, doi. 10.1105/tpc.111.094870
- By:
- Publication type:
- Article
Stretch on the L5 nerve root in high-grade spondylolisthesis reduction.
- Published in:
- Journal of Neurosurgery: Spine, 2022, v. 37, n. 2, p. 232, doi. 10.3171/2021.12.SPINE211237
- By:
- Publication type:
- Article
A systems genetics study of swine illustrates mechanisms underlying human phenotypic traits.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 88, doi. 10.1186/s12864-015-1240-y
- By:
- Publication type:
- Article
Transcriptome profiling shows gene regulation patterns in a flavonoid pathway in response to exogenous phenylalanine in Boesenbergia rotunda cell culture.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-984
- By:
- Publication type:
- Article
Caste-specific RNA editomes in the leaf-cutting ant Acromyrmex echinatior.
- Published in:
- Nature Communications, 2014, v. 5, n. 9, p. 4943, doi. 10.1038/ncomms5943
- By:
- Publication type:
- Article
RNA sequencing reveals the complex regulatory network in the maize kernel.
- Published in:
- Nature Communications, 2013, v. 4, n. 12, p. 2832, doi. 10.1038/ncomms3832
- By:
- Publication type:
- Article
Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genome-wide association study dissects the genetic architecture of oil biosynthesis in maize kernels.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 43, doi. 10.1038/ng.2484
- By:
- Publication type:
- Article
Identifying potential drug targets for idiopathic pulmonary fibrosis: a mendelian randomization study based on the druggable genes.
- Published in:
- Respiratory Research, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12931-024-02848-5
- By:
- Publication type:
- Article
RNA Editome in Rhesus Macaque Shaped by Purifying Selection.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004274
- By:
- Publication type:
- Article
Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.
- Published in:
- Oncology Letters, 2019, v. 17, n. 3, p. 3350
- By:
- Publication type:
- Article
Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Test development, optimization and validation of a WGS pipeline for genetic disorders.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01495-x
- By:
- Publication type:
- Article
Lack of evidence for existence of noncanonical RNA editing.
- Published in:
- Nature Biotechnology, 2013, v. 31, n. 1, p. 19, doi. 10.1038/nbt.2472
- By:
- Publication type:
- Article
The difficult calls in RNA editing.
- Published in:
- 2012
- By:
- Publication type:
- Question & Answer
Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome.
- Published in:
- Nature Biotechnology, 2012, v. 30, n. 3, p. 253, doi. 10.1038/nbt.2122
- By:
- Publication type:
- Article
Insights Into Ferroptosis: Targeting Glycolysis to Treat Graves' Orbitopathy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. 1994, doi. 10.1210/clinem/dgac163
- By:
- Publication type:
- Article
Energy-based swing-up control for a two-link underactuated robot with flexible first joint.
- Published in:
- Nonlinear Dynamics, 2023, v. 111, n. 1, p. 289, doi. 10.1007/s11071-022-07831-7
- By:
- Publication type:
- Article
Using 24-h intraocular pressure-related patterns to identify open-angle glaucoma in thyroid eye disease.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 4, p. 1151, doi. 10.1007/s00417-022-05873-6
- By:
- Publication type:
- Article
Author Correction: Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-57335-5
- By:
- Publication type:
- Article
Comparative mRNA and microRNA Expression Profiling of Three Genitourinary Cancers Reveals Common Hallmarks and Cancer-Specific Molecular Events.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022570
- By:
- Publication type:
- Article
Integrated Profiling of MicroRNAs and mRNAs: MicroRNAs Located on Xq27.3 Associate with Clear Cell Renal Cell Carcinoma.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015224
- By:
- Publication type:
- Article
Quantitative T1 mapping MRI for the assessment of extraocular muscle fibrosis in thyroid-associated ophthalmopathy.
- Published in:
- Endocrine (1355008X), 2022, v. 75, n. 2, p. 456, doi. 10.1007/s12020-021-02873-0
- By:
- Publication type:
- Article
Learning curve and clinical outcomes of percutaneous endoscopic transforaminal decompression for lumbar spinal stenosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 33, doi. 10.1007/s00439-022-02479-0
- By:
- Publication type:
- Article
Concurrent hearing and genetic screening in a general newborn population.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 521, doi. 10.1007/s00439-020-02118-6
- By:
- Publication type:
- Article
Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.883617
- By:
- Publication type:
- Article
Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.872179
- By:
- Publication type:
- Article
Review of Plastic Surgery Biomaterials and Current Progress in Their 3D Manufacturing Technology.
- Published in:
- Materials (1996-1944), 2020, v. 13, n. 18, p. 4108, doi. 10.3390/ma13184108
- By:
- Publication type:
- Article
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0600-x
- By:
- Publication type:
- Article
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0531-6
- By:
- Publication type:
- Article
Predictive value of pretreatment PD-L1 expression in EGFR-mutant non-small cell lung cancer: a meta-analysis.
- Published in:
- World Journal of Surgical Oncology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12957-021-02254-x
- By:
- Publication type:
- Article
A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.
- Published in:
- BioMed Research International, 2018, p. 1, doi. 10.1155/2018/1460835
- By:
- Publication type:
- Article
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83493-6
- By:
- Publication type:
- Article
AHD2.0: an update version of Arabidopsis Hormone Database for plant systematic studies.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. suppl_1, p. D1123, doi. 10.1093/nar/gkq1066
- By:
- Publication type:
- Article
Abnormal alanine aminotransferase levels in patients with moderate or severe ovarian hyperstimulation result in an increased risk of obstetric complications.
- Published in:
- International Journal of Gynecology & Obstetrics, 2023, v. 162, n. 3, p. 913, doi. 10.1002/ijgo.14749
- By:
- Publication type:
- Article
The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 7, p. 763, doi. 10.1093/clinchem/hvad046
- By:
- Publication type:
- Article
SOAPfusion: a robust and effective computational fusion discovery tool for RNA-seq reads.
- Published in:
- Bioinformatics, 2013, v. 29, n. 23, p. 2971, doi. 10.1093/bioinformatics/btt522
- By:
- Publication type:
- Article
Adjuvant chemotherapy may improve long-term outcomes in stage IB non-small cell lung cancer patients with previous malignancies: A propensity score-matched analysis.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.938195
- By:
- Publication type:
- Article
Surgery and chemotherapy cannot improve the survival of patients with early-stage mucosa-associated lymphoid tissue derived primary pulmonary lymphoma.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.965727
- By:
- Publication type:
- Article
Prognostic role of the platelet to lymphocyte ratio (PLR) in the clinical outcomes of patients with advanced lung cancer receiving immunotherapy: A systematic review and meta-analysis.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.962173
- By:
- Publication type:
- Article
Carrier rate of thalassemia among 25,910 high school students in Shaoguan area, China.
- Published in:
- Journal of Medical Screening, 2024, v. 31, n. 1, p. 53, doi. 10.1177/09691413231188069
- By:
- Publication type:
- Article
A Piecewise Bound Constrained Optimization for Harmonic Responsibilities Assessment under Utility Harmonic Impedance Changes.
- Published in:
- Energies (19961073), 2017, v. 10, n. 7, p. 936, doi. 10.3390/en10070936
- By:
- Publication type:
- Article
Possible pathogenic mechanism of gluteal pain in lumbar disc hernia.
- Published in:
- 2018
- By:
- Publication type:
- letter
Cover, Volume 42, Issue 12.
- Published in:
- Human Mutation, 2021, v. 42, n. 12, p. i, doi. 10.1002/humu.24295
- By:
- Publication type:
- Article